Canonical Allele Identifier: CA414904605
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860571T>A , CM000685.2:g.154860571T>A GRCh38
NC_000023.10:g.154088846T>A , CM000685.1:g.154088846T>A GRCh37
NC_000023.9:g.153742040T>A NCBI36
NG_011403.1:g.167153A>T
NG_011403.2:g.167153A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6761A>T MANE Select ENSP00000353393.4:p.Gln2254Leu
ENST00000644698.1:c.494A>T ENSP00000495706.1:p.Gln165Leu
ENST00000330287.10:c.356A>T ENSP00000327895.6:p.Gln119Leu
ENST00000360256.8:c.6761A>T ENSP00000353393.4:p.Gln2254Leu
NM_000132.3:c.6761A>T NP_000123.1:p.Gln2254Leu
NM_019863.2:c.356A>T NP_063916.1:p.Gln119Leu
XM_011531126.1:c.6656A>T XP_011529428.1:p.Gln2219Leu
NM_000132.4:c.6761A>T MANE Select NP_000123.1:p.Gln2254Leu
NM_019863.3:c.356A>T NP_063916.1:p.Gln119Leu